Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping / / special issue editor, Alisdair McNeill |
Pubbl/distr/stampa | MDPI - Multidisciplinary Digital Publishing Institute, 2019 |
Descrizione fisica | 1 electronic resource (94 p.) |
Disciplina | 612.8 |
Soggetto topico | Neurogenetics |
Soggetto non controllato |
polymicrogyria
neurodegenerative disease next generation sequencing (NGS) inborn error of metabolism genetic biomarker deep learning TUBA1A Alzheimer's disease (AD) ataxia risk prediction p.(Arg2His) movement science tubulin R2H diagnosis machine learning metal storage disorders amyotrophic lateral sclerosis (ALS) glucocerebrosidase Parkinsonism cerebellar hypoplasia Gaucher disease disease phenotyping tubulinopathy Parkinson's disease (PD) dementia Parkinson's disease |
ISBN | 3-03921-611-2 |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Altri titoli varianti | Diagnosis of Neurogenetic Disorders |
Record Nr. | UNINA-9910367751303321 |
MDPI - Multidisciplinary Digital Publishing Institute, 2019 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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Neurotoxicity of Environmental Metal Toxicants |
Autore | Ortega Richard |
Pubbl/distr/stampa | Basel, : MDPI Books, 2022 |
Descrizione fisica | 1 electronic resource (190 p.) |
Soggetto topico |
Medicine
Medical toxicology |
Soggetto non controllato |
Alzheimer's disease
copper soil and water pollution heavy metals morels grasspea cassava neurodegeneration mitochondrial dysfunction neurological disorders metals neurotoxicity arsenic Alzheimer's disease (AD) environmental risk factor proteostasis apoptosis phytochemicals grip strength neuromotor system NHANES synapse metal cadmium lead manganese mercury methylmercury diet cholesterol high fat low fat manganese speciation SH-SY5Y protein metabolism metal-on-metal (MoM) hip implants cobalt systemic cobaltism RNA-Seq RT-qPCR environmental exposure cognitive function race ethnicity CERAD animal fluency DSST |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910595072503321 |
Ortega Richard | ||
Basel, : MDPI Books, 2022 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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Novel Biomarkers in Alzheimer's Disease |
Autore | Villa Chiara |
Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
Descrizione fisica | 1 electronic resource (442 p.) |
Soggetto topico | Medicine |
Soggetto non controllato |
flotillin
Alzheimer's disease biomarker exosomes beta-amyloid Tau aging biomarkers cytokines cognitive decline metabolomics neuroinflammation multivariate analysis physical performance person-tailored PET/CT (18F)FDG neuropsychological assessment APP mutations APOE alleles PSEN1 PSEN2 germline mutations late onset AD early onset AD familial AD genetics of AD mitochondrial spare respiratory capacity mitochondrial membrane potential glycolytic reserve semantic memory phonemic fluency episodic memory neuropsychology neuroimaging mild cognitive impairment EEG TMS obesity diabetes inflammation Amyloid Beta mitochondrial dysfunction nutrition omega-3 fatty acids antioxidant carotenoids vitamin E cognition older adults ageing subjective cognitive decline clock genes Clock ApoE cardiovascular risk factors Alzheimer disease semantic priming amyloid beta cerebrospinal fluid amyloid beta peptide total tau phosphorylated tau diagnosis drug development clinical trials diagnostic research virus bacteria dementia blood behavioral and psychological symptoms of dementia (BPSD) Alzheimer's disease (AD) neuropsychiatry inventory scale (NPI) endophenotypes CART analysis MTHFR APOE COMT genetic variants early diagnosis biofluids amyloid cascade hypothesis glucose metabolism adipose tissue dysfunction energetic metabolism lysosomes dysfunction Type-3-Diabetes neurodegeneration amyloid tau soluble TREM2 NfL Multiplex SiMoA diagnostics messenger RNA microRNA neurotropic microbes precision medicine prognostics synaptic biomarkers neurofilament light chain |
Formato | Materiale a stampa |
Livello bibliografico | Monografia |
Lingua di pubblicazione | eng |
Record Nr. | UNINA-9910557129403321 |
Villa Chiara | ||
Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
Materiale a stampa | ||
Lo trovi qui: Univ. Federico II | ||
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